Results 41 to 50 of about 5,265,871 (311)

Barth syndrome in an adult patient: an overview of the problem and case report. A review [PDF]

Терапевтический архив
Barth syndrome is a rare genetic disease caused by abnormal cardiolipin metabolism, characterized by high mortality within 5 years of diagnosis due to heart failure and/or infectious complications.
Marina D. Muksinova, Yulia F. Osmolovskaya, Irina V. Leontyeva, Mareta A. Galaeva, Olga V. Stukalova, Allan G. Beniashvili, Alfiya A. Safiullina, Igor V. Zhirov, Sergey N. Tereshchenko   +8 more
doaj   +1 more source

Genetic Predisposition to Neurological Complications in Patients with COVID-19

Biomolecules, 2023
Several studies have identified rare and common genetic variants associated with severe COVID-19, but no study has reported genetic determinants as predisposition factors for neurological complications.
Nikhil Shri Sahajpal, Alex R. Hastie, Maximilian Schieck, Ashis K. Mondal, Marc Felde, Caspar I. van der Made, Janet S. Chou, Adrienne G. Randolph, Thomas Illig, Michael C. Zody, Catherine A. Brownstein, Alan H. Beggs, Alexander Hoischen, Alka Chaubey, Ravindra Kolhe   +14 more
doaj   +1 more source

Efficacy and Safety of Nanoencapsulated Sirolimus Plus Pegadricase: Results From the Randomized, Placebo‐Controlled Phase 3 Trials

Arthritis &Rheumatology, EarlyView.
Objective DISSOLVE I and II examined the efficacy and safety of nanoencapsulated sirolimus (NAS) plus pegadricase (NASP) in patients with uncontrolled gout (UG). Methods In these double‐blind, placebo‐controlled Phase 3 trials of NASP, patients were randomized 1:1:1 to infusions of high‐dose (HD) or low‐dose (LD) NAS plus pegadricase (HD NASP, LD NASP,
Herbert S. B. Baraf, Puja P. Khanna, Milan Petronijevic, Mamuka Lortkipanidze, Anand Patel, Kwabena Ayesu, Michael H. Pillinger, Atul Singhal, Joanna Sobierska, Jacquie Christie, Peter Traber, Rehan Azeem, Wesley DeHaan, Hugues Santin‐Janin, Bhavisha Desai, Alan Kivitz   +15 more
wiley   +1 more source

Evaluating discrepancies between high‐yield neuroscience conditions in preclerkship medical education and national clinical incidence

Anatomical Sciences Education, EarlyView.
Abstract Medical education must balance foundational science with clinical relevance. Increasing emphasis on standardized assessments has led to prioritization of “high‐yield” conditions—those most likely to be assessed. Subsequently, educators and students often prioritize these conditions.
Kathryn Veazey, Oheneba Boadum
wiley   +1 more source

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

British Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay, Amandine Manon, Hunter Stephens, S. Y. Amy Cheung, Bart de Keizer, Erik T. te Beek   +5 more
wiley   +1 more source

Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS‐C)

Advanced Genetics
Multisystem inflammatory syndrome in children (MIS‐C) is a pediatric complication of SARS‐CoV‐2 infection characterized by multiorgan inflammation and frequently by cardiovascular dysfunction.
Catherine A. Brownstein, Caspar I. van derMade, Kristin Cabral, Shira Rockowitz, Donghun Kang, Maximilian Schieck, Andy Wing Chun Pang, Jeffrey M. Robinson, Alex R. Hastie, Alka Chaubey, The C.O.V.I.D19hostgenomeS.V. Consortium, Alexander Hoischen, Alan H. Beggs   +12 more
doaj   +1 more source

A discrete choice experiment investigating preferences for funding drugs used to treat orphan diseases: an exploratory study [PDF]

, 2010
Policy debate about funding criteria for drugs used to treat rare, orphan diseases is gaining prominence. This study presents evidence from a discrete choice experiment using a convenience sample of university students to investigate individual ...
Jeremiah Hurley, Mentzakis, Emmanouil, Stefanowska, Patricia, Emmanouil Mentzakis, Patricia Stefanowska, Hurley, Jeremiah   +5 more
core   +1 more source

How the HTAR will contribute to a value‐based decision‐making for medicinal products across the EU

British Journal of Clinical Pharmacology, EarlyView.
The European Union Health Technology Regulation 2021/2282 (HTAR) introduces joint assessment of health technologies (including medicinal products and medical devices) across EU Member States. It was signed into law in 2021 and came into full force in January 2025.
Roisin Adams, Michal Stanak
wiley   +1 more source

Beyond the label: Rethinking off‐label drug use in paediatrics. Towards a scientifically grounded and safer future for paediatric pharmacotherapy

British Journal of Clinical Pharmacology, EarlyView.
Abstract Despite regulatory progress being made in the past two decades, off‐label drug use in paediatrics remains pervasive, with prevalence estimated between 3% and 97% of prescriptions across different clinical settings. Off‐label use—defined as prescribing outside the conditions described in the Summary of Product Characteristics (SmPC)—is often ...
Tjitske M. van der Zanden, Miriam G. Mooij, Matthijs de Hoog, Saskia N. de Wildt   +3 more
wiley   +1 more source

Combined somatic mutation and transcriptome analysis reveals region-specific differences in clonal architecture in human cortex

Cell Reports
Summary: The human cerebral cortex is specialized into regions, but little is known about how human cellular lineages shape cortical regional variation and neuronal cell-type distribution during development.
Vinayak V. Viswanadham, Sonia N. Kim, Emre Caglayan, Ryan N. Doan, Yanmei Dou, Sara Bizzotto, Sattar Khoshkhoo, August Yue Huang, Rebecca Yeh, Brian H. Chhouk, Alex Truong, Kathleen M. Chappell, Marc Beaudin, Alison Barton, Shyam K. Akula, Yifan Zhao, Lariza Rento, Michael Lodato, Ryan A. Szeto, Javier Ganz, Pengpeng Li, Jessica W. Tsai, Robert Sean Hill, Peter J. Park, Christopher A. Walsh   +24 more
doaj   +1 more source